Canonical Allele Identifier: CA2697556250
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2682634
ClinVar RCV Id: RCV003480007

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110750_11110751insA , CM000681.2:g.11110750_11110751insA GRCh38
NC_000019.9:g.11221426_11221427insA , CM000681.1:g.11221426_11221427insA GRCh37
NC_000019.8:g.11082426_11082427insA NCBI36
NG_009060.1:g.26370_26371insA , LRG_274:g.26370_26371insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1297_1298insA ENSP00000252444.6:p.Val433AspfsTer11
ENST00000559340.2:c.1039_1040insA ENSP00000453696.2:p.Val347AspfsTer11
ENST00000560467.2:c.941-764_941-763insA ENSP00000453513.2:n.941-764_941-763insA
ENST00000558518.6:c.1039_1040insA MANE Select ENSP00000454071.1:p.Val347AspfsTer11
ENST00000252444.9:c.1293_1294insA
ENST00000455727.6:c.535_536insA ENSP00000397829.2:p.Val179AspfsTer11
ENST00000535915.5:c.916_917insA ENSP00000440520.1:p.Val306AspfsTer11
ENST00000545707.5:c.658_659insA ENSP00000437639.1:p.Val220AspfsTer11
ENST00000557933.5:c.1039_1040insA ENSP00000453557.1:p.Val347AspfsTer11
ENST00000558013.5:c.1039_1040insA ENSP00000453346.1:p.Val347AspfsTer11
ENST00000558518.5:c.1039_1040insA ENSP00000454071.1:p.Val347AspfsTer11
ENST00000560173.1:n.38_39insA
ENST00000560467.1:c.541-764_541-763insA
NM_000527.4:c.1039_1040insA , LRG_274t1:c.1039_1040insA NP_000518.1:p.Val347AspfsTer11
NM_001195798.1:c.1039_1040insA NP_001182727.1:p.Val347AspfsTer11
NM_001195799.1:c.916_917insA NP_001182728.1:p.Val306AspfsTer11
NM_001195800.1:c.535_536insA NP_001182729.1:p.Val179AspfsTer11
NM_001195803.1:c.658_659insA NP_001182732.1:p.Val220AspfsTer11
XM_011528010.1:c.1039_1040insA XP_011526312.1:p.Val347AspfsTer11
XM_011528011.1:c.658_659insA XP_011526313.1:p.Val220AspfsTer11
XR_244074.2:n.1189_1190insA
XM_011528010.2:c.1039_1040insA XP_011526312.1:p.Val347AspfsTer11
XR_001753685.2:n.1156_1157insA
XR_001753686.2:n.1156_1157insA
NM_000527.5:c.1039_1040insA MANE Select NP_000518.1:p.Val347AspfsTer11
NM_001195798.2:c.1039_1040insA NP_001182727.1:p.Val347AspfsTer11
NM_001195799.2:c.916_917insA NP_001182728.1:p.Val306AspfsTer11
NM_001195800.2:c.535_536insA NP_001182729.1:p.Val179AspfsTer11
NM_001195803.2:c.658_659insA NP_001182732.1:p.Val220AspfsTer11